Incidental Mutation 'IGL03346:Pcdhb18'
ID417447
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb18
Ensembl Gene ENSMUSG00000048347
Gene Nameprotocadherin beta 18
SynonymsPcdhbR, Pcdhb9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.124) question?
Stock #IGL03346
Quality Score
Status
Chromosome18
Chromosomal Location37489465-37494505 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) G to A at 37489621 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 1 (M1I)
Ref Sequence ENSEMBL: ENSMUSP00000052113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053856] [ENSMUST00000055949] [ENSMUST00000115661] [ENSMUST00000194544]
Predicted Effect probably benign
Transcript: ENSMUST00000053856
SMART Domains Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387

DomainStartEndE-ValueType
Pfam:Cadherin_2 31 112 5.8e-35 PFAM
CA 155 240 2.42e-18 SMART
CA 264 345 8.03e-24 SMART
CA 368 449 5.81e-21 SMART
CA 473 559 8.15e-25 SMART
CA 589 670 6.34e-13 SMART
Pfam:Cadherin_C_2 686 770 1.8e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000055949
AA Change: M1I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: M1I

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Cadherin_2 30 112 3.1e-34 PFAM
CA 155 240 7.97e-19 SMART
CA 264 345 6.27e-26 SMART
CA 368 449 2.63e-19 SMART
CA 473 559 7.09e-25 SMART
CA 589 670 2.87e-11 SMART
Pfam:Cadherin_C_2 687 771 7.9e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115661
SMART Domains Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

DomainStartEndE-ValueType
CA 20 131 5.3e-2 SMART
CA 155 240 1.51e-19 SMART
CA 264 348 7.6e-25 SMART
CA 372 453 1.42e-24 SMART
CA 477 563 1.42e-24 SMART
CA 594 674 4.12e-12 SMART
low complexity region 706 721 N/A INTRINSIC
Pfam:Cadherin_tail 796 930 3.9e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 C T 16: 29,314,604 V410M probably benign Het
Cdkn2aip G T 8: 47,713,618 D51E probably benign Het
Chd6 A G 2: 160,960,362 V2184A probably benign Het
Clcn1 C T 6: 42,311,219 T797I probably benign Het
Cldn23 G A 8: 35,825,440 probably benign Het
Cntnap4 A G 8: 112,773,576 D500G probably benign Het
Cog5 A T 12: 31,894,038 I641F possibly damaging Het
Cr2 A T 1: 195,169,759 V94E probably damaging Het
Creg2 T G 1: 39,650,747 D65A probably damaging Het
Dennd4a A G 9: 64,888,526 R711G possibly damaging Het
Efr3b A G 12: 3,984,648 V58A probably damaging Het
Fbxo3 A G 2: 104,050,294 T250A probably damaging Het
Fzr1 T C 10: 81,369,184 T300A probably benign Het
Gabrg1 A T 5: 70,778,131 Y227N possibly damaging Het
Gins3 A G 8: 95,643,275 I197V probably benign Het
Gm17079 T C 14: 51,692,963 T142A possibly damaging Het
Gm8909 C A 17: 36,168,109 D83Y probably damaging Het
Gna15 T C 10: 81,503,045 Y320C probably damaging Het
Hibch G A 1: 52,920,380 probably benign Het
Kif5b G A 18: 6,222,767 R355W probably damaging Het
Klf1 T C 8: 84,902,932 S129P probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Nat8f5 A G 6: 85,817,658 S107P probably damaging Het
Olfr331 A G 11: 58,501,755 L267P possibly damaging Het
Olfr938 C A 9: 39,077,961 Q261H probably benign Het
Olfr938 T A 9: 39,077,962 Q261L probably damaging Het
Plcb3 A G 19: 6,955,052 F1080L probably benign Het
Polr2g T C 19: 8,798,305 H14R probably damaging Het
Rp1l1 A G 14: 64,029,440 D825G probably benign Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Slc25a54 T C 3: 109,085,730 probably benign Het
Smad9 C A 3: 54,789,215 Q234K probably benign Het
Tie1 T C 4: 118,472,828 Y1066C probably damaging Het
Traf1 T C 2: 34,948,472 E118G probably benign Het
Ttc21b T C 2: 66,237,848 D278G possibly damaging Het
Uaca C A 9: 60,854,318 T204K probably damaging Het
Utrn A T 10: 12,525,352 Y154N probably benign Het
Virma A G 4: 11,518,984 T694A probably benign Het
Vmn2r50 T C 7: 10,046,002 D500G probably damaging Het
Vmn2r59 T A 7: 42,043,829 H449L probably benign Het
Other mutations in Pcdhb18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01685:Pcdhb18 APN 18 37491931 missense probably benign 0.35
IGL02651:Pcdhb18 APN 18 37491181 nonsense probably null
IGL02721:Pcdhb18 APN 18 37490031 missense probably benign 0.33
IGL02945:Pcdhb18 APN 18 37489995 missense probably benign 0.34
IGL03030:Pcdhb18 APN 18 37490733 missense probably damaging 1.00
R0206:Pcdhb18 UTSW 18 37490187 missense possibly damaging 0.80
R0208:Pcdhb18 UTSW 18 37490187 missense possibly damaging 0.80
R0680:Pcdhb18 UTSW 18 37490294 missense probably damaging 0.98
R1517:Pcdhb18 UTSW 18 37489620 start codon destroyed probably null 1.00
R1519:Pcdhb18 UTSW 18 37490892 missense probably damaging 1.00
R1597:Pcdhb18 UTSW 18 37491767 missense probably benign 0.19
R1735:Pcdhb18 UTSW 18 37490769 missense probably benign 0.00
R2089:Pcdhb18 UTSW 18 37490600 missense probably damaging 0.99
R2091:Pcdhb18 UTSW 18 37490600 missense probably damaging 0.99
R2091:Pcdhb18 UTSW 18 37490600 missense probably damaging 0.99
R2206:Pcdhb18 UTSW 18 37491289 missense probably damaging 0.99
R2207:Pcdhb18 UTSW 18 37491289 missense probably damaging 0.99
R4773:Pcdhb18 UTSW 18 37490454 missense probably damaging 1.00
R4837:Pcdhb18 UTSW 18 37489814 missense probably damaging 1.00
R5271:Pcdhb18 UTSW 18 37491596 missense possibly damaging 0.94
R5568:Pcdhb18 UTSW 18 37491800 missense probably benign 0.44
R5647:Pcdhb18 UTSW 18 37490484 missense probably benign 0.05
R5648:Pcdhb18 UTSW 18 37490484 missense probably benign 0.05
R5690:Pcdhb18 UTSW 18 37490484 missense probably benign 0.05
R5692:Pcdhb18 UTSW 18 37490484 missense probably benign 0.05
R5812:Pcdhb18 UTSW 18 37490484 missense probably benign 0.05
R5813:Pcdhb18 UTSW 18 37490484 missense probably benign 0.05
R5928:Pcdhb18 UTSW 18 37490484 missense probably benign 0.05
R5929:Pcdhb18 UTSW 18 37490484 missense probably benign 0.05
R5930:Pcdhb18 UTSW 18 37491935 missense possibly damaging 0.63
R6209:Pcdhb18 UTSW 18 37490484 missense probably benign 0.05
R6255:Pcdhb18 UTSW 18 37490484 missense probably benign 0.05
R6602:Pcdhb18 UTSW 18 37490480 missense probably damaging 0.99
R6699:Pcdhb18 UTSW 18 37491952 missense probably benign 0.00
R7055:Pcdhb18 UTSW 18 37490811 missense possibly damaging 0.64
R7197:Pcdhb18 UTSW 18 37490383 missense probably benign 0.06
R7289:Pcdhb18 UTSW 18 37490647 missense probably damaging 1.00
R7345:Pcdhb18 UTSW 18 37491923 missense probably benign 0.19
R7403:Pcdhb18 UTSW 18 37491897 missense probably benign 0.09
R7541:Pcdhb18 UTSW 18 37491609 missense probably damaging 1.00
R7651:Pcdhb18 UTSW 18 37490993 missense probably benign 0.00
R7670:Pcdhb18 UTSW 18 37491696 missense probably damaging 1.00
R7673:Pcdhb18 UTSW 18 37491737 missense probably benign 0.39
X0022:Pcdhb18 UTSW 18 37490273 missense probably benign 0.06
Posted On2016-08-02